Variant report

Variant	rs17030259
Chromosome Location	chr1:112955831-112955832
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112936190..112939312-chr1:112953653..112956465,3	MCF-7	breast:
2	chr1:112937041..112940524-chr1:112952763..112957185,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13376283	0.92[AFR][1000 genomes]
rs17030229	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030350	0.86[YRI][hapmap]
rs17030356	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
2	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
5	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
6	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
9	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
10	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
11	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
12	chr1:112944800-112959000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:112946800-112959000	Weak transcription	GM12878-XiMat	blood
15	chr1:112946800-112960800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:112947000-112956800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:112947200-112956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:112947200-112958200	Weak transcription	Right Ventricle	heart
20	chr1:112947200-112959000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:112947200-112959200	Weak transcription	Ovary	ovary
22	chr1:112947200-112961800	Weak transcription	A549	lung
23	chr1:112947200-112961800	Weak transcription	HepG2	liver
24	chr1:112947200-112971200	Weak transcription	Aorta	Aorta
25	chr1:112947200-112981000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:112947400-112965600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:112948000-112958600	Weak transcription	HMEC	breast
28	chr1:112949200-112958400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:112949200-112960600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:112949200-112963200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:112949200-112966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:112949800-112958800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:112950000-112957000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:112950000-112960000	Weak transcription	Fetal Lung	lung
35	chr1:112950200-112956800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:112950200-112959400	Weak transcription	Fetal Brain Male	brain
37	chr1:112950400-112956800	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:112951000-112956800	Weak transcription	Lung	lung
39	chr1:112951000-112957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:112951200-112969000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:112951600-112968800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:112952000-112969600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:112952400-112960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:112952400-112990600	Weak transcription	Esophagus	oesophagus
45	chr1:112952600-112963400	Weak transcription	Stomach Mucosa	stomach
46	chr1:112952600-112981400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:112952800-112957200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:112953800-112966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:112954400-112957200	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:112954400-112958800	Weak transcription	Liver	Liver

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